research Novel RNF113A Variant Underlying X‐Linked Trichothiodystrophy With Presumed Mosaicism in an Unaffected Mother
A new genetic variant causes trichothiodystrophy in two brothers, but their mother may carry it without showing symptoms.
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research RISK FACTORS, PREVALENCE AND DIAGNOSIS OF HUTCHISON GILFORD SYNDROME WITH SPECIAL REFERENCE TO CASE REPORTS
Hutchinson-Gilford Progeria Syndrome is a rare genetic disorder caused by a specific gene mutation, characterized by aging symptoms and managed by monitoring heart health and using low-dose aspirin.
research Polyglandular autoimmune syndrome type III with a prevalence of cutaneous features
PAS III can cause multiple autoimmune diseases with noticeable skin issues.
research Table 1_A partially automated method for DNA extraction from marmoset hair follicles to avoid blood chimerism.xlsx
Researchers created an efficient method to extract DNA from marmoset hair, avoiding blood chimerism.
research Hypotrichosis with juvenile macular dystrophy: a case report with molecular study
A new genetic mutation was found causing hair and eye issues in a boy.
research Outcome Measures in Cutaneous Autoimmune Disease: Dermatomyositis and Lupus Erythematosus
The document concludes that better tools are needed to measure skin disease severity in dermatomyositis and cutaneous lupus erythematosus, and introduces the DSSI and CLASI as reliable instruments.
research A novel pathogenic variant of NECTIN4 gene in a child with ectodermal dysplasia-syndactyly syndrome
A child with ectodermal dysplasia-syndactyly syndrome has a new mutation in the NECTIN4 gene.
research An optimized force-triggered density gradient sedimentation method for isolation of pelage follicle dermal papilla cells from neonatal mouse skin
New method efficiently isolates hair growth cells from newborn mouse skin.
research DNA methylation of microRNA-365-1 induces apoptosis of hair follicle stem cells by targeting DAP3
DNA methylation of miR-365-1 causes hair follicle stem cell death by affecting DAP3.
research 644 Tumor cell adhesion as a risk factor for SLN metastasis and predictor of disease recurrence in primary cutaneous melanoma
Tumor cell adhesion is linked to higher risk of SLN metastasis and melanoma recurrence, and a model including these factors predicts these outcomes better than one with just clinical data.
research MON-194 A Case Of Sertoli Cell Tumor In A Patient With Familial Partial Lipodystrophy Type 2
A rare ovarian tumor was found in a young woman with a genetic fat disorder.
research An animal study on the effectiveness of platelet-rich plasma as a direct pulp capping agent
Platelet-rich plasma is as effective as mineral trioxide aggregate for pulp capping and may offer better cellular responses.
research Molecular insights into the formation of drug-polymer inclusion complex
The research shows how certain drugs can form stable structures with polymers, which is important for making new pharmaceuticals.
research Structural variation-driven FADS2P1 expression modulates hair trait diversity through unsaturated fatty acid metabolism in goats
research Harmonic Vibrational Frequency Simulation of Pharmaceutical Molecules via a Novel Multi-Molecular Fragment Interception Method
The new method provides more accurate vibrational frequencies for drug molecules than traditional models.
research Desmoglein 4 is regulated by transcription factors implicated in hair shaft differentiation
Desmoglein 4 is controlled by specific proteins that affect hair growth.
research Hemoglobinopathy and Systemic Lupus: A Rare Association
Diagnosing both systemic lupus and hemoglobinopathy is challenging due to overlapping symptoms.
research Increased lactate dehydrogenase activity is dispensable in squamous carcinoma cells of origin
High lactate dehydrogenase activity is not necessary for the growth of squamous cell carcinoma.
research Identification of somatic and germline mosaicism for a keratin 5 mutation in epidermolysis bullosa simplex in a family of which the proband was previously regarded as a sporadic case
The keratin 5 mutation in a family with epidermolysis bullosa simplex was due to mosaicism, not a new mutation.
research CLED: A Calcium-Linked Protein Associated with Early Epithelial Differentiation
research Periodontal Ligament Stem Cells: Regenerative Potency in Periodontium
Periodontal ligament stem cells show promise for regrowing tissues but require more research for safe, effective use.
research Epidermal expression of the truncated prelamin A causing Hutchinson-Gilford progeria syndrome: effects on keratinocytes, hair and skin
Progerin affects cell shape but not hair or skin in mice.
research Modulation of Electroosmotic Flow through Skin: Effect of Poly(Amidoamine) Dendrimers
Polyamidoamine dendrimers can change the strength and direction of electroosmotic flow through the skin, affecting drug delivery.
research Lupus miliaris disseminatus faciei involving the scalp resulted in cicatricial alopecia
A rare skin condition caused scarring hair loss on the scalp.
research RGDSP-functionalized peptide hydrogel stimulates growth factor secretion via integrin αv/PI3K/AKT axis for improved wound healing by human amniotic mesenchymal stem cells
A special hydrogel helps stem cells heal wounds better by boosting growth factors.
research Hutchinson-Gilford progeria syndrome - A brief introduction
Hutchinson-Gilford Progeria Syndrome caused rapid aging due to a genetic mutation, with treatments to manage symptoms.
research Autoimmunity and clinical pathology amelioration in SLE by Dexamethasone primed Mesenchymal Stem Cell derived conditioned media
Dexamethasone-primed stem cell media shows promise in treating lupus by reducing symptoms and inflammation.
research Dissolving microneedle array patches containing mesoporous silica nanoparticles of different pore sizes as a tunable sustained release platform
Microneedle patches with different pore sizes can effectively deliver drugs and trigger strong immune responses.
research Pax9 is required for filiform papilla development and suppresses skin-specific differentiation of the mammalian tongue epithelium
Pax9 is crucial for proper tongue surface development and preventing skin-like changes.
research 068 Association of systemic involvement with skin morphology assessed by multiphoton microscopy in pseudoxanthoma elasticum
Skin changes in Pseudoxanthoma elasticum patients can indicate the severity of related health issues.